Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.P97H

ERN1

1,022 papers

RefSeq Summary

This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribon...

Pfam Domains

Pkinaseaa 571–832UCSCProtein kinase domain
Ribonuc_2-5Aaa 838–961UCSCRibonuclease 2-5A

Gene Aliases

HGNC Name

endoplasmic reticulum to nucleus signaling 1

HGNC Alias Symbols

IRE1; IRE1P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001433.5
p.P97H
c.290C>A
Surrounding Variants
1 paper
NM_001433.5
p.P97delFs
c.289_290delGG
1 paper
NM_001433.5
p.P97A
c.289C>G
1 paper
NM_001433.5
p.F98Y
c.293T>A
1 paper
NM_001433.5
p.F98L
c.294T>A
1 paper
NM_001433.5
p.L96I
c.286C>A
2 papers
NM_001433.5
p.K95*
c.283A>T
1 paper
NM_001433.5
p.T94_K95Splc
c.283-1G>A
1 paper
NM_001433.5
p.I100L
c.298A>C
1 paper
NM_001433.5
p.I100N
c.299T>A
4 papers
NM_001433.5
p.E102Q
c.304G>C
2 papers
NM_001433.5
p.L103*
c.308T>A
1 paper
NM_001433.5
p.L103F
c.309G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."